ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.532G>A (p.Val178Ile) (rs118203395)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164135 SCV000214750 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724965 SCV000484491 uncertain significance not provided 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000122198 SCV000518098 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000122198 SCV000086417 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000228124 SCV000284730 benign Tuberous sclerosis 1 2017-12-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics,National & Kapodistrian University of Athens RCV000228124 SCV000928337 uncertain significance Tuberous sclerosis 1 2018-02-27 criteria provided, single submitter clinical testing PP3
Tuberous sclerosis database (TSC1) RCV000042305 SCV000066094 not provided Tuberous sclerosis syndrome no assertion provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.